Spina Bifida: Causes, Symptoms, Diagnosis and Treatment

Spina bifida is a neural tube defect resulting in mild to severe disabilities, depending on where the unprotected portion of the spinal cord is and how much is exposed. Here’s what you need to know.

The Universal Guide to Spina Bifida: Everything you ever wanted to know, straight from the experts.

In This Article: What Is Spina Bifida?   |    Types   |    Causes    |    Complications    |    Helping Your Child   |    FAQs   |   

 

Discovering that your child has spina bifida can feel like a tale of two babies: There’s the one you imagined would reach all their physical milestones like walking, jumping, and running right on time. Then there’s the one who--depending on the severity of their condition--may never reach all these milestones or may reach them later than their peers.

young boy in a wheelchair in front of school lockersThe extent of disability differs with each patient. Photo Source:123RF.com

What Is Spina Bifida?

Spina bifida, which means “split spine,” is the most common neural tube defect. “With neural tube defects, the bones around the spinal cord fail to close properly during the first month of pregnancy,” explains Lawrence G. Lenke, MD, professor of orthopedic surgery at Columbia University Medical Center in New York City. “This leaves the spinal cord without enough protection and affects the way it develops, putting the baby’s spinal cord and nerves at risk.”

Understanding spina bifida starts with understanding how the spine forms in utero.

The spinal cord begins to form on the back of the developing embryo as a line of flat cells. A couple of weeks into fetal development, these cells “roll up” to form a tunnel through which the developing spine will pass. This is the neural tube.

“In spina bifida, cells that eventually migrate and form the nerves, spinal cord, and surrounding bony spine and muscles sometimes don’t close properly,” says Mari Groves, MD, a pediatric neurosurgeon at Johns Hopkins Medicine in Baltimore.

The child’s disabilities can range from mild to severe, depending on how much and where the spine is exposed. In many cases, children with spina bifida lose some or all of their ability to control their lower bodies, including bladder or bowel function. In the mildest cases, people with spina bifida may experience no symptoms at all

Even though there is no cure for spina bifida, treatments have come a long way, and in the 21st century children with spina bifida can live longer and with a better quality of life than ever before. Here’s what you need to know.

What Are the Different Types of Spina Bifida? 

Doctors classify spina bifida into 3 main types based on how severe the opening in the spine is. In general, the type of spina bifida a person has is an indicator how severe its effects will be. Spina bifida can occur at any level of the spine, but it’s most common in the lower back.

In addition to the type of spina bifida, where on the spine the opening is provides another predictor of troubles to come, explains Herbert E. Fuchs, MD, PhD, a pediatric neurosurgeon at Duke Health in Durham, North Carolina.  “The level of spine affected is the most important factor in determining spina bifida severity,” he says. “The higher in the back the opening is, the more severe the loss of normal function.”

Myelomeningocele

This is the most common and, unfortunately, most severe form of spinal bifida. When the baby’s spine doesn’t form completely during development, a sac containing spinal fluid can grow outward through the opening in the incomplete spine.

In myelomeningocele, this sac contains spinal nerves and the meninges, their protective covering. Without the spine’s bony protection, the nerves and meninges are left unprotected and frequently become damaged. People who have myelomeningocele often have severe nerve damage and physical disabilities. Dr. Lenke notes that 80 percent of myelomeningocele cases occur in the lumbar (low back) or sacral regions of the spine.

Meningocele

In this type of spina bifida, the spinal cord develops normally. But the opening in the spine causes spinal fluid to collect in a cyst-like sac. The difference compared with myelomeningocele is that, in meningocele, the cyst contains only fluid, not spinal nerves. There is usually no nerve damage, but people with meningocele may have some minor physical disabilities.

Spina Bifida Occulta

As the mildest form of spina bifida, spina bifida occulta is sometimes called “hidden” spina bifida. There is a small gap in the spine where vertebrae haven’t formed properly, but there is no opening in the back and no sac. The spinal cord and nerves usually are normal in spina bifida occulta and the person usually doesn’t have any disabilities.

According to the Spina Bifida Association, about 15 percent of healthy people have spina bifida occulta without knowing it. In a small number of people, spina bifida occulta causes pain and neurological challenges like tethered spinal cord, a complication that can be surgically corrected.

Lindsay Andras, MD, a pediatric orthopedic surgeon at Children’s Hospital Los Angeles, notes that spina bifida occulta may not even be diagnosed until later in childhood or even adulthood. “It’s often found when imaging of the back is required for something else like pain or an injury,” she says. “It’s generally a source of parental distress that something is wrong but no functional problems.”


Spina Bifida illustrationEighty percent of myelomeningocele cases occur in the lumbar (low back) or sacral region of the spine. But, it can occur at any level in the spine. Photo Source: Shutterstock.

What Causes Spina Bifida?

For the most part, doctors don’t yet know what causes spina bifida. The most likely explanation is that spina bifida is caused by a combination of genetics, nutritional deficiency and environmental factors.

Your environment includes anything you come in contact with in your everyday life including where you work and live, what you eat and drink and how you spend your time. Air pollution and cigarette smoke can harm an unborn baby, too.

Most people who have spina bifida don’t have any family members with the disease. Some cases have been reported to run in families, but there is no clear indication that there is a genetic link in inheriting spina bifida. “I treat a few patients who also have a sibling with spina bifida, but that’s unusual,” says Dr. Andras. “Spina bifida doesn’t truly run in families but its exact cause is still up for debate.”

But what’s not up for debate is that the most common cause of spina bifida is that a pregnant mother doesn’t get enough of the B vitamin folic acid in her diet. The evidence for folic acid deficiency among women of childbearing age is so strong that, since 1998, the U.S. Food and Drug Administration has required all cereal, bread and pasta sold in the United States to be fortified with folic acid. Today, the Centers for Disease Control and Prevention (CDC) estimates that folic acid fortification prevents about 1,300 babies from being born with spina bifida each year.

Who Gets Spina Bifida? 

The CDC reports that around 1,400 babies are born with spina bifida in the U.S. every year. That works out to about 1 in every 2,700 births.

Hispanic women are the most likely women in the U.S. to have a baby with spina bifida at nearly 4 children out of every 100,000 births. White mothers are next most likely to give birth to a child with spina bifida, at a rate of about 3 children out of 100,000 births.

Black and Asian American women are the least likely to have a child with spina bifida.

What Complications Can Spina Bifida Cause?

Spina bifida can cause a wide range of complications in children and adults. Severe spina bifida can cause multiple severe disabilities, including paralysis and impaired cognitive function. People with mild spina bifida lesions on their spines are more likely to have mild disabilities.

“The spectrum of disabilities has to do with the extent of the spinal opening. The more of the spinal cord that's affected, the more disabilities result,” explains Dr. Fuchs. “On the other hand, when babies have just a tiny bit of the spinal cord affected, they may have problems with bowel and bladder control, but their lower extremities are strong and they can walk well.”

In addition to the location and size of the spinal opening, the extent of your child’s complications are also affected by whether skin covers the spina bifida lesion, or whether the nerves are exposed to the outside world. Another factor that determines the extent of your child’s spina bifida complications is which spinal nerves have been trapped in the myelomeningecele.

It’s also important to emphasize that, as daunting as the full list of potential complications is, not all children will have every disability. Your child’s medical team will give you detailed information about how spina bifida affects your child’s body. Importantly, these complications can all be treated by skilled pediatric neurosurgeons, pediatric orthopedic surgeons, and team members from other medical specialties.

Bowel and Bladder Issues

People who have myelomeningocele usually cannot control their bladder or bowels. People with the milder types of spina bifida may also be incontinent. The location of the spinal opening determines whether a person can expect to gain bladder and bowel control. Expect members of your child’s medical team to pay careful attention to his or her toileting issues. Over time, your child may be able to self-catheterize to manage urination, which will be helpful for your child’s social development.

Chiari Malformation

With this neural tube defect, the lower part of the brain slips into the spinal canal instead of staying completely in the skull. The result is often hydrocephalus, excess fluid in the skull that puts pressure on the brain. Symptoms include severe headaches, dizziness, and difficulties walking.

Chiari malformation type I is the least severe form and often causes no symptoms and requires no treatment. Nearly all people with myelomeningocele also have a type II Chiari malformation.

Chiari malformation type II is more severe and usually requires surgery. Common surgeries include shunting to relieve hydrocephalus and posterior fossa decompression, in which the surgeon removes a small piece of skull to relieve pressure on the brain.

Hydrocephalus

Cerebrospinal fluid (CSF) normally bathes the brain and spine to protect and cushion them. But when there’s too much CSF, pressure builds dangerously high inside the skull. Hydrocephalus can cause cognitive impairment and other serious problems such as epilepsy, vision loss, endocrine disorders, and breathing problems. Many people with spina bifida also have hydrocephalus but not everyone with hydrocephalus has spina bifida.

Spina bifida hydrocephalusMRI of the brain of someone with hydrocephalus

Most people with hydrocephalus will need a shunt or tube to prevent the water on the brain from building up to dangerous levels. When they work well, shunts drain fluid away from the brain toward parts of the body like the abdomen that can absorb the excess fluid. But shunts may become blocked or infected. In that case, further surgery will be needed to replace the shunt with one that works. “The average child probably has about three shunt revisions to get to age 16,” says Dr. Fuchs. “If the shunt gets clogged, you have to do surgery to fix that. There's no medical treatment.”

Latex Allergy

Children with spina bifida typically have frequent surgeries and often must use a catheter to remove their urine. That means they are exposed to many products that contain latex. Over time, they may develop an allergy to the proteins found in natural latex products. These allergic reactions can be severe and even life-threatening. Most hospitals now use latex-free medical supplies and equipment wherever possible. Fortunately, medical products are labeled if they contain latex. Household and recreational equipment like balls may not be, however.

Mobility Issues

With spina bifida, the nerves below the opening on the back don’t work properly. Depending on where your child’s spine is affected, they may not be able to feel their legs and feet or may even be paralyzed. Whatever the extent of their mobility issues, early and regular physical therapy is sure to help. Many people with spina bifida need  mobility devices, like leg braces or a wheelchair.

Orthopedic Issues

Just as myelomeningocele damages nerves, it can also lead to bone, joint and muscle abnormalities in the lower body. Muscles can be tight and weak, and bones and joints may grow abnormally or become dislocated. Again, physical therapy and mobility aids can be very helpful. Surgery may be needed as well.

Scoliosis

A normal spine resembles the letter S when viewed from the side. People with spina bifida frequently develop either kyphosis—when the upper spine becomes abnormally rounded—or scoliosis—when the spine curves from side to side, often in a C shape.

Skin Problems

Wounds may develop on the skin of people with spina bifida, particularly if they don’t have feeling in that body part. The feet, legs, buttocks and back are most likely to be affected, especially if the person with spina bifida must wear a cast or brace. If not treated promptly, skin wounds can lead to serious infection.

Sleep Apnea

Depending on where in the spine the lesion is located, people with spina bifida often develop sleep apnea. In this disorder, breathing stops and restarts during sleep, sometimes hundreds of times per hour. Treating sleep apnea and other breathing disorders can yield big quality-of-life improvements when sleep becomes more restful.

Tethered Spinal Cord

Over time, scar tissue can form in the spinal cord of someone who has had surgery to correct spina bifida. When this scar tissue prevents the spinal cord from floating freely in the spinal canal, the cord has become tethered. Symptoms include leg numbness, weakness or tremors, as well as back pain or worsening loss of bladder or bowel control. A neurosurgeon can gently release the spinal cord from the scar tissue during surgery to prevent further nerve damage over time.

How Is Spina Bifida Treated?

Since no two people with spina bifida are the same, the treatments people need can vary, too. People with spina bifida occulta may not need any treatment at all. People who have meningocele or myelomeningocele will almost certainly need to have neurosurgery to repair their spinal defect.

Expect the medical team to emphasize that, as important as surgery to repair the spinal opening is, nothing can cure spina bifida. “We repair as much of the defect as we can, but we can’t cure it or change the underlying architecture of the spinal cord,” Dr. Groves says. “We try to tell parents the worst-case and best-case scenarios with the understanding that most kids fall in between the two extremes.”

Your child’s medical team will provide guidance on the optimal time to perform spinal surgery.

Spina Bifida Surgery Before Birth

A growing number of major medical centers offer prenatal surgery to repair spinal defects before birth. This fetal surgery must take place before the 26th week of pregnancy. Some research has shown that babies whose spine is repaired before birth may have less disability.

Surgeons either open the mother’s uterus to repair the baby’s spine or they insert tiny surgical tools into small openings in the mother’s uterus. However, the potential risks to both mother and baby are substantial. Your doctor will evaluate your individual medical situation carefully before recommending prenatal surgery.

Spina Bifida Surgery for Newborns

The most common time for spinal repair surgeries for myelomeningocele is in the first one to two days after your baby is born. The neurosurgeon will replace the nerves back into the spinal canal and gently cover them with skin and muscles. This helps prevent infection and further damage to the nerves and other tissues trapped in the myelomeningocele.

Other Surgeries for Spina Bifida

Over time, your child might need additional surgeries. Some common surgeries related to spina bifida include:

  • Shunt insertion or replacement to control hydrocephalus
  • Tendon release in feet or knees to aid mobility
  • Repair of spinal deformities like scoliosis and kyphosis
  • Posterior fossa decompression to relieve fluid buildup on brain
  • Release of tethered spinal cord
  • Repair of bladder or bowel problems

How Can I Help My Child with Spina Bifida?

Life with spina bifida may not be easy, but modern medical care has brought about many advances in recent years. The old view of life with spina bifida was that cognitive and neurological decline and an early death were unavoidable.

Children born with spina bifida today face the potential of a much brighter future, explains Dr. Fuchs. “Better shunts and improved urinary catheters have made all the difference in extending life and improving its quality,” he says. “Now we expect children to grow into adulthood and we expect their function to remain stable throughout life.” By contrast, in the 1950s and ‘60s, most people with spina bifida died by early adulthood at the latest.

Fortunately, there are a number of strategies you can use to help your child achieve his or her full potential.

Work as part of a team. Spina bifida is a complicated disease that requires the expertise of a diverse group of medical professionals. Today, the standard of care is to offer each patient with spina bifida a multidisciplinary care team with the expertise to collaborate on all aspects of development. Your child’s team will likely include medical professionals from these disciplines:

  • Pediatrics
  • Neurosurgery
  • Orthopedics
  • Physical medicine and rehabilitation
  • Urology
  • Physical therapy
  • Occupational therapy
  • Psychology
  • Social work       
  • Nutrition
  • Special education

You are an important team member too, of course, because you know your child best and can share valuable insights. “I can’t make the best recommendation if I don’t have the full picture of what’s happening with a child, and that’s where the parents’ perspectives are absolutely vital,” says Dr. Groves.

Be an active participant in your child’s care. When you have a child with spina bifida, you’re bound to spend a great deal of time at medical appointments, all of which will require your focus and involvement throughout the visit. It’s particularly important to stay involved during physical therapy appointments, says Dr. Andras: “Most of that therapy will eventually transition to being done by parents due to insurance coverage limits,” she explains. “Doing the stretches every day is important to maintain mobility, and parents are ideally situated to take the lead on a daily basis.”

Encourage your child to be as active as possible. Building healthy habits early around food and activity level are especially important for children with spina bifida, Dr. Andras says. “Try to make sure caloric intake doesn’t exceed needs, as extra weight will quickly limit functionality,” she explains. “And help your child be as active as possible every day, even if they can’t take steps, because weight bearing helps increase bone density and prevent fractures.”

Spina bifida activityEncourage your child to be as active as possible.

Plan for your child’s medical care in adulthood. With the rise in comprehensive spina bifida programs with coordinated care in every discipline, it’s easy to assume that this unified approach continues once children with spina bifida reach adulthood. But that’s often not the case.

“Adult spina bifida care can feel fragmented, because those patients no longer receive the coordinated care they had growing up,” says Dr. Groves. “Now that patients who were children in the 1960s and 1970s are encountering typical problems of aging in addition to spina bifida-related issues, we need a movement now to extend what we do for children to adults.”

Eventually, both you and your child will need to transition toward managing and coordinating their own care. Be prepared to apply what you learn about navigating your child’s healthcare needs now to when he or she becomes an adult.

There’s no question that life with spina bifida can be challenging, but you’ll have a whole medical team on hand to help your family chart a new path.

FAQs

What Causes Spina Bifida?

A number of factors cause spina bifida, but researchers don’t know them all. At least 20 genes are known to influence risk, and there’s also environmental factors. The top risk, though, is not getting enough of the B vitamin folic acid.

How Is Spina Bifida Diagnosed?

During your pregnancy, your doctor or midwife will offer prenatal testing for possible birth defects. They will also talk to you about the tests’ potential risks and benefits and answer any questions you may have. These tests include blood tests to check for proteins that might signal a neural tube defect, ultrasound, and amniocentesis.

How Can I Prevent Spina Bifida in my Baby?

Spina bifida can happen before you even know you’re pregnant, so the number one thing to know is: It’s not your fault! To lower your risk, you can focus on eating a healthy diet, getting enough exercise, treating fevers and avoiding hot tubs and saunas (as heat has been associated with a small increase in risk) and, above all, getting enough folic acid.

How Much Folic Acid Do I Need to Avoid Spina Bifida?

Foods that contain folate—the naturally occurring form of the supplement folic acid—include beans, lentils, citrus fruits and leafy greens. The March of Dimes recommends getting at least 400 micrograms of folate/folic acid a day. If you or a relative have already had a baby who has spina bifida, bump that up to 4,000 micrograms.

Updated on: 01/05/21
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Spina Bifida: Complications Include Scoliosis and Kyphosis
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Spina Bifida: Complications Include Scoliosis and Kyphosis

Myelomeningocele is the most common and severe type of spina bifida. Potential complications include paralysis, bowel and bladder problems, scoliosis, kyphosis, Chiari malformation, clubfoot, and spinal cord tethering.
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